Version: 8.0.0
Date: Tue Jan 28 2025
1,106 results for abcd4

Abcd4

(Mus musculus)
Gene
Name: ATP-binding cassette, sub-family D member 4
Synonyms: Pxmp1l, P69r, peroxisomal membrane protein 1-like
Source: MGI:1349217
Biotype: protein coding gene
Symbol: Abcd4 (Mmu)
Symbol: Abcd4
Automated Gene Synopsis: Orthologous to human ABCD4 (ATP binding cassette subfamily D member 4).
Strict Orthology Symbols: abcd4
Alleles: Abcd4 (Mmu)...Abcd4 (Mmu)...Abcd4 (Mmu)

Abcd4

(Rattus norvegicus)
Gene
Name: ATP binding cassette subfamily D member 4
Synonyms: LOC299196, lysosomal cobalamin transporter ABCD4, ATP-binding cassette, sub-family D (ALD), member 4, Pxmp1l, MGC105956, ATP-binding cassette sub-family D member 4, ATP-binding cassette, subfamily D (ALD), member 4, ATP-binding cassette, sub-family D, member 4
Source: RGD:1307273
Biotype: protein coding gene
Symbol: Abcd4 (Rno)
Symbol: Abcd4
Gene Synopsis: Orthologous to human ABCD4 (ATP binding cassette subfamily D member 4); INTERACTS WITH (+)-schisandrin
Automated Gene Synopsis: Orthologous to human ABCD4 (ATP binding cassette subfamily D member 4).
Synonyms: lysosomal cobalamin transporter ABCD4
Strict Orthology Symbols: abcd4

abcd4

(Danio rerio)
Gene
Name: ATP-binding cassette, sub-family D (ALD), member 4
Synonyms: zgc:153503
Source: ZFIN:ZDB-GENE-050517-30
Biotype: protein coding gene
Symbol: abcd4 (Dre)
Symbol: abcd4
Automated Gene Synopsis: Orthologous to human ABCD4 (ATP binding cassette subfamily D member 4).
Strict Orthology Symbols: abcd4

ABCD4

(Homo sapiens)
Gene
Name: ATP binding cassette subfamily D member 4
Synonyms: MAHCJ, P79R, PMP70-related protein, P70R, ABC41, peroxisomal membrane protein 1-like, EST352188, lysosomal cobalamin transporter ABCD4, ATP-binding cassette, sub-family D (ALD), member 4, PXMP1L, ATP-binding cassette sub-family D member 4, 69 kDa peroxisomal ABC-transporter, peroxisomal membrane protein 69, PXMP1-L, PMP69
Source: HGNC:68
Biotype: protein coding gene
Symbol: ABCD4 (Hsa)
Symbol: ABCD4
Synonyms: lysosomal cobalamin transporter ABCD4
Strict Orthology Symbols: abcd4

abcd4

(Xenopus tropicalis)
Gene
Name: ATP binding cassette subfamily D member 4
Synonyms: ATP binding cassette subfamily D member 4, abcd4
Source: Xenbase:XB-GENE-1006704
Biotype: gene
Symbol: abcd4
Symbol: abcd4 (Xtr)
Automated Gene Synopsis: Orthologous to human ABCD4 (ATP binding cassette subfamily D member 4).
Synonyms: abcd4...abcd4...abcd4
Strict Orthology Symbols: abcd4

abcd4.L

(Xenopus laevis)
Gene
Name: ATP binding cassette subfamily D member 4
Synonyms: ATP binding cassette subfamily D member 4, abcd4.L
Source: Xenbase:XB-GENE-6488321
Biotype: gene
Symbol: abcd4.L (Xla)
Automated Gene Synopsis: Orthologous to human ABCD4 (ATP binding cassette subfamily D member 4).
Strict Orthology Symbols: abcd4
Symbol: abcd4.L

Abcd4em28Gpt

(Mus musculus)
Allele/Variant
Source: MGI:7309255
Genes: Abcd4 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Not Available
Variant Name: Not Available
Symbol: Abcd4 (Mmu)
Genes: Abcd4 (Mmu)
Symbol: Abcd4em28Gpt

Abcd4em1Smoc

(Mus musculus)
Allele/Variant
Source: MGI:7750284
Genes: Abcd4 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Not Available
Variant Name: Not Available
Symbol: Abcd4 (Mmu)
Genes: Abcd4 (Mmu)
Symbol: Abcd4em1Smoc

Abcd4tm1a(EUCOMM)Hmgu

(Mus musculus)
Allele/Variant
Source: MGI:4434636
Genes: Abcd4 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Not Available
Variant Name: Not Available
Symbol: Abcd4 (Mmu)
Genes: Abcd4 (Mmu)
Symbol: Abcd4tm1a(EUCOMM)Hmgu

Abcd4tm1a(EUCOMM)Hmgu/Abcd4tm1a(EUCOMM)Hmgu [background:] Not Specified

(Mus musculus)
Model
Id: MGI:5450473
Synonyms: Not Available
Symbol: Abcd4/Abcd4 [background:] Not Specified (Mmu)
Genes: Abcd4 (Mmu)
Alleles: Abcd4 (Mmu)
Name: Abcd4/Abcd4 [background:] Not Specified

abcd4wk1/wk1

(Danio rerio)
Model
Id: ZFIN:ZDB-FISH-210223-2
Synonyms: Not Available
Symbol: abcd4 (Dre)
Genes: abcd4 (Dre)
Name: abcd4

pmp-3

(Caenorhabditis elegans)
Gene
Name: Peroxisomal Membrane Protein related 3
Synonyms: CELE_C54G10.3, C54G10.3
Source: WB:WBGene00004060
Biotype: protein coding gene
Gene Synopsis: pmp-3 encodes a putative ABC transporter orthologous to human ABCD4 (OMIM:603214) and paralogous to PMP
Automated Gene Synopsis: Orthologous to human ABCD4 (ATP binding cassette subfamily D member 4).
Strict Orthology Symbols: abcd4

pmp-5

(Caenorhabditis elegans)
Gene
Name: Peroxisomal Membrane Protein related 5
Synonyms: T10H9.5, CELE_T10H9.5
Source: WB:WBGene00004062
Biotype: protein coding gene
Gene Synopsis: Is an ortholog of human ABCD4 (ATP binding cassette subfamily D member 4).
Automated Gene Synopsis: Orthologous to human ABCD4 (ATP binding cassette subfamily D member 4).
Strict Orthology Symbols: abcd4

ABC-type vitamin B12 transporter activity

Gene Ontology
Source: GO:0015420
Synonyms:
  • ATP-dependent cobalamin transmembrane transporter activity
  • ATP-dependent vitamin B12 transmembrane transporter activity
Branch: molecular function
Genes: ABCD4 (Hsa)...Abcd4 (Rno)...Abcd4 (Mmu)

very long-chain fatty acid catabolic process

Gene Ontology
Source: GO:0042760
Synonyms:
  • very-long-chain fatty acid breakdown
  • very-long-chain fatty acid catabolic process
Branch: biological process
Genes: ABCD4 (Hsa)...abcd4 (Dre)...Abcd4 (Mmu)

long-chain fatty acid import into peroxisome

Gene Ontology
Source: GO:0015910
Synonyms:
  • peroxisomal long-chain fatty acid import
  • peroxisomal long-chain fatty acid uptake
Branch: biological process
Genes: ABCD4 (Hsa)...abcd4 (Dre)...Abcd4 (Mmu)

wk1

(Danio rerio)
Allele/Variant
Source: ZFIN:ZDB-ALT-200924-3
Genes: abcd4 (Dre)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: vitamin B12 deficiency
Variant Name: Not Available
Genes: abcd4 (Dre)

cobalamin transport

Gene Ontology
Source: GO:0015889
Synonyms:
  • vitamin B12 transport
Branch: biological process
Genes: Abcd4 (Rno)...ABCD4 (Hsa)...Abcd4 (Mmu)

vitamin B12 deficiency

Disease
Source: DOID:0050731
Definition: A vitamin metabolic disorder that results from low blood levels of vitamin B12.
Genes: abcd4 (Xtr)...abcd4 (Dre)...Abcd4 (Rno)...ABCD4 (Hsa)...Abcd4 (Mmu)

cobalamin metabolic process

Gene Ontology
Source: GO:0009235
Synonyms:
  • cobalamin metabolism
  • vitamin B12 metabolic process
Branch: biological process
Genes: Abcd4 (Rno)...ABCD4 (Hsa)...Abcd4 (Mmu)

WT + MO1-abcd4

(Danio rerio)
Model
Id: ZFIN:ZDB-FISH-210223-1
Synonyms: Not Available
Genes: abcd4 (Dre)
Name: WT + MO1-abcd4

long-chain fatty acid transmembrane transporter activity

Gene Ontology
Source: GO:0005324
Synonyms:
  • long-chain fatty acid transporter activity
Branch: molecular function
Genes: abcd4 (Dre)...ABCD4 (Hsa)...Abcd4 (Mmu)

ATP-binding cassette (ABC) transporter complex

Gene Ontology
Source: GO:0043190
Synonyms:
  • ABC-type efflux permease complex
  • ABC-type efflux porter complex
Branch: cellular component
Genes: ABCD4 (Hsa)

peroxisome organization

Gene Ontology
Source: GO:0007031
Synonyms:
  • peroxisome organisation
  • peroxisome organization and biogenesis
Branch: biological process
Genes: ABCD4 (Hsa)...abcd4 (Dre)...Abcd4 (Mmu)

fatty acid beta-oxidation

Gene Ontology
Source: GO:0006635
Synonyms: Not Available
Branch: biological process
Genes: abcd4 (Dre)...Abcd4 (Mmu)...ABCD4 (Hsa)

peroxisomal membrane

Gene Ontology
Source: GO:0005778
Synonyms:
  • peroxisome membrane
Branch: cellular component
Genes: abcd4 (Dre)...Abcd4 (Mmu)...ABCD4 (Hsa)

ATPase-coupled transmembrane transporter activity

Gene Ontology
Source: GO:0042626
Synonyms:
  • ATP-coupled transmembrane transporter activity
  • ATP-dependent transmembrane transporter activity
Branch: molecular function
Genes: abcd4 (Dre)...Abcd4 (Mmu)...ABCD4 (Hsa)

ABC-type transporter activity

Gene Ontology
Source: GO:0140359
Synonyms:
  • ABC transporter
  • ABC-type efflux permease activity
Branch: molecular function
Genes: abcd4 (Dre)...ABCD4 (Hsa)

mRNA transcript levels in E15.5, E17.5 and P1 Crb1KOCrb2deltaRPC against Crb1KO neuroretina, and in E15.5 Crb1KOCrb2deltaRPC against wild type neuroretina

(Mus musculus)
HTP Dataset Index
High-Throughput (HTP) Dataset Index metadata provided by MGI
ID: ArrayExpress:GSE239456
Tags: WT vs. mutant, developmental stage, genotype
Summary: mRNA transcript levels in embryonic day 15.5 (E15.5), E17.5 and postnatal day 1 (P1) mouse Crb1KOCrb2deltaRPC against mouse Crb1KO neuroretina (Run1), and in E15.5 mouse Crb1KOCrb2deltaRPC against wild type neuroretina (Run2) were analyzed. A comparison between Crb1KOCrb2deltaRPC and Crb1KO retina, at E15.5, or E17.5, or P1 on 100% C57BL/6JOlaHsd, yielded only subtle persistent changes at the transcriptional level over time (Figure 1 G-I, respectively), despite significant differences in morphology. As inter-nal positive control at E15.5, E17.5 and P1 we used ATP-binding cassette, sub-family D (ALD), member 4 (Abcd4), which is substantially upregulated in mouse retina expressing the Cre recombinase fused to the Chx10 promoter, with the Abcd4 gene immediately adja-cent to the Chx10Cre locus in the mouse genome. To further examine potential transcriptional changes at E15.5, we compared Crb1KOCrb2deltaRPC mice in 100% C57BL/6JOlaHsd genetic background against wild type C57BL/6JRccHsd mice. In this setting, we observed 40 differentially expressed genes (DEGs) compared to the previously 0 DEGs (E15.5; adj. p-val < 0.01 & log2FC > 1.5). The Crb1KOCrb2deltaRPC mice on C57BL/6JOlaHsd genetic background, due to mutations in the synuclein alpha (Snca), multimerin-1 (Mmrn1), and Crb1 gene, do not express Snca, Mmrn1, or Crb1 gene transcripts, and express high levels of Abcd4 due to the adjacent Chx10Cre transgene on chromosome 6. We made use of all 4 genes as negative and positive controls in the gene expression profiling, since the mice on C57BL/6JRccHsd genetic background have no mutations in Snca, Mmrn1 or Crb1 and express low levels of Abcd4. Analysis of the E15.5 data revealed upregulated expression of the WD repeat and FYVE domain-containing protein 1 (Wdfy1) gene also known as FYVE domain-containing pro-tein localized to endosomes (Fens-1), which encodes a phosphatidylinositol 3-phosphate binding protein that contains a FYVE zinc finger domain and multiple WD-40 repeat do-mains. Comparison of E15.5, E17.5 and postnatal day 1 (P1) mouse Crb1KOCrb2ΔRPC against mouse Crb1KO neuroretina (Run1) on exactly the same genetic background. Comparison of E15.5, E17.5 mouse Crb1KOCrb2deltaRPC against wild type neuroretina (Run2) was on different genetic backgrounds of C57BL/6JOlaHsd versus C57BL/6JRccHsd, respectively. Sequencing was performed using Life Technologies SOLiD5500 with single-end, 50 bp reads. Two separate runs were performed. Run1 contained n=30 mice; n=5 Crb1KOCrb2F/F (Crb1KO) and n=5 Crb1KOCrb2deltaRPC (Tg) per development timepoint of the mouse embryo at E15.5, E17.5 and P1. Run2 contained n=9 mice; n=4 Crb1KOCrb2deltaRPC mice (C57BL/6JOlaHsd) and n=5 healthy mice (C57BL/6JRccHsd = wildtype, WT) at E15.5. Reads were aligned against mm10, using the 'whole.transcriptome.frag' workflow with bamgen.mqv.threshold set to 20 (Lifescope v2.5). Counts were obtained using the GTF as supplied by Lifescope (transformation of refGene.txt downloaded from UCSC at 25-06-2014) within this workflow.

peroxisome

Gene Ontology
Source: GO:0005777
Synonyms:
  • peroxisomal
  • peroxisome vesicle
Branch: cellular component
Genes: Abcd4 (Mmu)...ABCD4 (Hsa)...Abcd4 (Rno)

cellular response to leukemia inhibitory factor

Gene Ontology
Source: GO:1990830
Synonyms:
  • cellular response to CDF
  • cellular response to cholinergic differentiation factor
Branch: biological process
Genes: Abcd4 (Mmu)...ABCD4 (Hsa)...Abcd4 (Rno)

lysosomal membrane

Gene Ontology
Source: GO:0005765
Synonyms:
  • lysosome membrane
Branch: cellular component
Genes: Abcd4 (Mmu)...ABCD4 (Hsa)...Abcd4 (Rno)

ATP hydrolysis activity

Gene Ontology
Source: GO:0016887
Synonyms:
  • ATP hydrolase activity
  • ATP monophosphatase activity
Branch: molecular function
Genes: Abcd4 (Mmu)...ABCD4 (Hsa)...abcd4 (Dre)...Abcd4 (Rno)

endoplasmic reticulum membrane

Gene Ontology
Source: GO:0005789
Synonyms:
  • ER membrane
Branch: cellular component
Genes: Abcd4 (Mmu)...ABCD4 (Hsa)...Abcd4 (Rno)

identical protein binding

Gene Ontology
Source: GO:0042802
Synonyms:
  • isoform-specific homophilic binding
  • protein homopolymerization
Branch: molecular function
Genes: Abcd4 (Mmu)...ABCD4 (Hsa)...Abcd4 (Rno)

sa37941

(Danio rerio)
Allele/Variant
Source: ZFIN:ZDB-ALT-161003-15704
Genes: abcd4 (Dre)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: stop_gained
Diseases: Not Available
Variant Name: Not Available
Genes: abcd4 (Dre)

ATP binding

Gene Ontology
Source: GO:0005524
Synonyms:
  • Mg-ATP binding
  • MgATP binding
Branch: molecular function
Genes: Abcd4 (Mmu)...ABCD4 (Hsa)...abcd4 (Dre)

transmembrane transport

Gene Ontology
Source: GO:0055085
Synonyms:
  • ATP hydrolysis coupled transmembrane transport
  • membrane transport
Branch: biological process
Genes: Abcd4 (Mmu)...ABCD4 (Hsa)...abcd4 (Dre)

(GRCh38)14:74293207T>C

(Homo sapiens)
Allele/Variant
Source: rs779676647
Genes: ABCD4 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)14:74293207T>C
Gene Synonyms: lysosomal cobalamin transporter ABCD4

(GRCh38)14:74293217G>A

(Homo sapiens)
Allele/Variant
Source: rs141868117
Genes: ABCD4 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)14:74293217G>A
Gene Synonyms: lysosomal cobalamin transporter ABCD4

(GRCh38)14:74295878T>C

(Homo sapiens)
Allele/Variant
Source: rs1280841182
Genes: ABCD4 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)14:74295878T>C
Gene Synonyms: lysosomal cobalamin transporter ABCD4

(GRCh38)14:74296370A>G

(Homo sapiens)
Allele/Variant
Source: rs765424411
Genes: ABCD4 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, synonymous_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)14:74296370A>G
Gene Synonyms: lysosomal cobalamin transporter ABCD4

(GRCh38)14:74296406G>C

(Homo sapiens)
Allele/Variant
Source: rs1230890093
Genes: ABCD4 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)14:74296406G>C
Gene Synonyms: lysosomal cobalamin transporter ABCD4

(GRCh38)14:74297923C>T

(Homo sapiens)
Allele/Variant
Source: rs375608814
Genes: ABCD4 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: splice_region_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)14:74297923C>T
Gene Synonyms: lysosomal cobalamin transporter ABCD4

(GRCh38)14:74302890G>A

(Homo sapiens)
Allele/Variant
Source: rs147329563
Genes: ABCD4 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)14:74302890G>A
Gene Synonyms: lysosomal cobalamin transporter ABCD4

(GRCh38)14:74292754G>A

(Homo sapiens)
Allele/Variant
Source: rs995719705
Genes: ABCD4 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, non_coding_transcript_variant, synonymous_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)14:74292754G>A
Gene Synonyms: lysosomal cobalamin transporter ABCD4

(GRCh38)14:74295211A>C

(Homo sapiens)
Allele/Variant
Source: rs144451801
Genes: ABCD4 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)14:74295211A>C
Gene Synonyms: lysosomal cobalamin transporter ABCD4

(GRCh38)14:74297924G>A

(Homo sapiens)
Allele/Variant
Source: rs368213518
Genes: ABCD4 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: splice_region_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)14:74297924G>A
Gene Synonyms: lysosomal cobalamin transporter ABCD4

(GRCh38)14:74294881A>G

(Homo sapiens)
Allele/Variant
Source: rs3742800
Genes: ABCD4 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)14:74294881A>G
Gene Synonyms: lysosomal cobalamin transporter ABCD4

(GRCh38)14:74295280G>A

(Homo sapiens)
Allele/Variant
Source: rs7148875
Genes: ABCD4 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)14:74295280G>A
Gene Synonyms: lysosomal cobalamin transporter ABCD4